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Lessons Learned from CNV Analysis of Major Birth Defects

The treatment of major birth defects are key concerns for child health. Hitherto, for the majority of birth defects, the underlying cause remains unknown, likely to be heterogeneous. The implicated mortality and/or reduced fecundity in major birth defects suggest a significant fraction of mutational...

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Autores principales: Hilger, Alina Christine, Dworschak, Gabriel Clemens, Reutter, Heiko Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7663563/
https://www.ncbi.nlm.nih.gov/pubmed/33153233
http://dx.doi.org/10.3390/ijms21218247
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author Hilger, Alina Christine
Dworschak, Gabriel Clemens
Reutter, Heiko Martin
author_facet Hilger, Alina Christine
Dworschak, Gabriel Clemens
Reutter, Heiko Martin
author_sort Hilger, Alina Christine
collection PubMed
description The treatment of major birth defects are key concerns for child health. Hitherto, for the majority of birth defects, the underlying cause remains unknown, likely to be heterogeneous. The implicated mortality and/or reduced fecundity in major birth defects suggest a significant fraction of mutational de novo events among the affected individuals. With the advent of systematic array-based molecular karyotyping, larger cohorts of affected individuals have been screened over the past decade. This review discusses the identification of disease-causing copy-number variations (CNVs) among individuals with different congenital malformations. It highlights the differences in findings depending on the respective congenital malformation. It looks at the differences in findings of CNV analysis in non-isolated complex congenital malformations, associated with central nervous system malformations or intellectual disabilities, compared to isolated single organ-system malformations. We propose that the more complex an organ system is, and the more genes involved during embryonic development, the more likely it is that mutational de novo events, comprising CNVs, will confer to the expression of birth defects of this organ system.
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spelling pubmed-76635632020-11-14 Lessons Learned from CNV Analysis of Major Birth Defects Hilger, Alina Christine Dworschak, Gabriel Clemens Reutter, Heiko Martin Int J Mol Sci Review The treatment of major birth defects are key concerns for child health. Hitherto, for the majority of birth defects, the underlying cause remains unknown, likely to be heterogeneous. The implicated mortality and/or reduced fecundity in major birth defects suggest a significant fraction of mutational de novo events among the affected individuals. With the advent of systematic array-based molecular karyotyping, larger cohorts of affected individuals have been screened over the past decade. This review discusses the identification of disease-causing copy-number variations (CNVs) among individuals with different congenital malformations. It highlights the differences in findings depending on the respective congenital malformation. It looks at the differences in findings of CNV analysis in non-isolated complex congenital malformations, associated with central nervous system malformations or intellectual disabilities, compared to isolated single organ-system malformations. We propose that the more complex an organ system is, and the more genes involved during embryonic development, the more likely it is that mutational de novo events, comprising CNVs, will confer to the expression of birth defects of this organ system. MDPI 2020-11-03 /pmc/articles/PMC7663563/ /pubmed/33153233 http://dx.doi.org/10.3390/ijms21218247 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Hilger, Alina Christine
Dworschak, Gabriel Clemens
Reutter, Heiko Martin
Lessons Learned from CNV Analysis of Major Birth Defects
title Lessons Learned from CNV Analysis of Major Birth Defects
title_full Lessons Learned from CNV Analysis of Major Birth Defects
title_fullStr Lessons Learned from CNV Analysis of Major Birth Defects
title_full_unstemmed Lessons Learned from CNV Analysis of Major Birth Defects
title_short Lessons Learned from CNV Analysis of Major Birth Defects
title_sort lessons learned from cnv analysis of major birth defects
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7663563/
https://www.ncbi.nlm.nih.gov/pubmed/33153233
http://dx.doi.org/10.3390/ijms21218247
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